Incidental Mutation 'IGL02826:Parp2'
| ID |
361228 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Parp2
|
| Ensembl Gene |
ENSMUSG00000036023 |
| Gene Name |
poly (ADP-ribose) polymerase family, member 2 |
| Synonyms |
Adprtl2, Aspartl2, Adprt2, C78626, PARP-2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.390)
|
| Stock # |
IGL02826
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
51045347-51058758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51052872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 155
(I155K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048877
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036126]
[ENSMUST00000227810]
|
| AlphaFold |
O88554 |
| PDB Structure |
CRYSTAL STRUCTURE OF THE CATALYTIC FRAGMENT OF MURINE POLY (ADP-RIBOSE) POLYMERASE-2 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036126
AA Change: I155K
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000048877
Gene: ENSMUSG00000036023
AA Change: I155K
| Domain | Start | End | E-Value | Type |
|---|
|
WGR
|
95 |
175 |
1.17e-35 |
SMART |
|
Pfam:PARP_reg
|
208 |
338 |
1.4e-49 |
PFAM |
|
Pfam:PARP
|
341 |
553 |
1.8e-76 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226880
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227705
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227810
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228624
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228672
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228833
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228872
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes poly(ADP-ribosyl)transferase-like 2 protein, which contains a catalytic domain and is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. The basic residues within the N-terminal region of this protein may bear potential DNA-binding properties, and may be involved in the nuclear and/or nucleolar targeting of the protein. Two alternatively spliced transcript variants encoding distinct isoforms have been found. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant animals are sensitive to gamma radiation. Epithelial crypt degeneration and DNA repair deficiency is apparent following radiation-induced injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A3galt2 |
T |
C |
4: 128,655,302 (GRCm39) |
|
probably benign |
Het |
| Alk |
C |
T |
17: 72,176,531 (GRCm39) |
G1591D |
probably damaging |
Het |
| Angptl2 |
T |
C |
2: 33,118,327 (GRCm39) |
S34P |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,627,354 (GRCm39) |
V137A |
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,366,770 (GRCm39) |
M845V |
probably damaging |
Het |
| Camk1d |
A |
G |
2: 5,570,571 (GRCm39) |
V30A |
possibly damaging |
Het |
| Ceacam19 |
G |
A |
7: 19,616,535 (GRCm39) |
T193I |
probably benign |
Het |
| Cfap298 |
A |
C |
16: 90,722,950 (GRCm39) |
D261E |
probably benign |
Het |
| Chst15 |
T |
A |
7: 131,868,475 (GRCm39) |
D315V |
probably damaging |
Het |
| Cux1 |
G |
T |
5: 136,336,857 (GRCm39) |
P885Q |
probably damaging |
Het |
| Cyth1 |
C |
T |
11: 118,076,307 (GRCm39) |
E88K |
possibly damaging |
Het |
| Dido1 |
A |
G |
2: 180,325,751 (GRCm39) |
V479A |
probably benign |
Het |
| Dlc1 |
G |
T |
8: 37,037,429 (GRCm39) |
|
probably benign |
Het |
| H2-Ab1 |
G |
A |
17: 34,483,885 (GRCm39) |
R82Q |
probably damaging |
Het |
| Hps6 |
T |
A |
19: 45,994,480 (GRCm39) |
*806K |
probably null |
Het |
| Ilf3 |
T |
C |
9: 21,309,340 (GRCm39) |
S486P |
probably benign |
Het |
| Kdm1b |
C |
A |
13: 47,233,943 (GRCm39) |
T759K |
probably damaging |
Het |
| Kirrel1 |
C |
A |
3: 86,995,792 (GRCm39) |
V381F |
probably damaging |
Het |
| Kmt2b |
A |
T |
7: 30,276,569 (GRCm39) |
V1701E |
probably damaging |
Het |
| Lrmda |
T |
C |
14: 22,878,805 (GRCm39) |
Y100H |
probably damaging |
Het |
| Mastl |
T |
C |
2: 23,035,421 (GRCm39) |
I169V |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,991,630 (GRCm39) |
E1576G |
probably damaging |
Het |
| Nek3 |
A |
T |
8: 22,650,384 (GRCm39) |
|
probably null |
Het |
| Nipal3 |
G |
T |
4: 135,195,861 (GRCm39) |
Y247* |
probably null |
Het |
| Nt5e |
A |
C |
9: 88,237,758 (GRCm39) |
K229N |
probably damaging |
Het |
| Opa1 |
A |
G |
16: 29,429,705 (GRCm39) |
M290V |
probably null |
Het |
| Or2a14 |
A |
G |
6: 43,130,511 (GRCm39) |
I91V |
possibly damaging |
Het |
| Or8d6 |
G |
T |
9: 39,854,254 (GRCm39) |
G233C |
probably damaging |
Het |
| Pde4dip |
G |
T |
3: 97,674,403 (GRCm39) |
A171E |
probably damaging |
Het |
| Prom2 |
C |
T |
2: 127,373,036 (GRCm39) |
E678K |
probably benign |
Het |
| Rab12 |
A |
G |
17: 66,805,111 (GRCm39) |
|
probably benign |
Het |
| Rgs8 |
A |
T |
1: 153,546,545 (GRCm39) |
T13S |
probably damaging |
Het |
| Setd3 |
A |
G |
12: 108,078,383 (GRCm39) |
|
probably benign |
Het |
| Shisal1 |
A |
G |
15: 84,304,330 (GRCm39) |
|
probably benign |
Het |
| Slx4ip |
G |
A |
2: 136,846,893 (GRCm39) |
V53I |
probably damaging |
Het |
| Stil |
A |
G |
4: 114,881,295 (GRCm39) |
D613G |
probably benign |
Het |
| Tektip1 |
A |
G |
10: 81,200,570 (GRCm39) |
|
probably benign |
Het |
| Tjp3 |
T |
A |
10: 81,109,523 (GRCm39) |
S858C |
probably damaging |
Het |
| Tmem215 |
A |
G |
4: 40,474,632 (GRCm39) |
*236W |
probably null |
Het |
| Ttbk1 |
A |
G |
17: 46,781,586 (GRCm39) |
V389A |
probably benign |
Het |
| Wdfy4 |
A |
G |
14: 32,693,707 (GRCm39) |
F2706S |
possibly damaging |
Het |
| Xpo4 |
C |
A |
14: 57,866,877 (GRCm39) |
V222L |
possibly damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,236,809 (GRCm39) |
S428G |
probably benign |
Het |
| Zfp286 |
T |
C |
11: 62,678,786 (GRCm39) |
Q47R |
probably damaging |
Het |
| Zfp318 |
A |
G |
17: 46,709,680 (GRCm39) |
K468E |
probably damaging |
Het |
|
| Other mutations in Parp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03022:Parp2
|
APN |
14 |
51,058,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03051:Parp2
|
APN |
14 |
51,056,805 (GRCm39) |
splice site |
probably benign |
|
|
R0110:Parp2
|
UTSW |
14 |
51,057,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0450:Parp2
|
UTSW |
14 |
51,057,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Parp2
|
UTSW |
14 |
51,057,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1442:Parp2
|
UTSW |
14 |
51,056,732 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1590:Parp2
|
UTSW |
14 |
51,048,001 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1668:Parp2
|
UTSW |
14 |
51,058,313 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1806:Parp2
|
UTSW |
14 |
51,056,836 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1846:Parp2
|
UTSW |
14 |
51,052,843 (GRCm39) |
nonsense |
probably null |
|
|
R2029:Parp2
|
UTSW |
14 |
51,047,543 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2990:Parp2
|
UTSW |
14 |
51,054,457 (GRCm39) |
missense |
probably benign |
|
|
R3933:Parp2
|
UTSW |
14 |
51,056,844 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4921:Parp2
|
UTSW |
14 |
51,056,725 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6406:Parp2
|
UTSW |
14 |
51,056,934 (GRCm39) |
missense |
probably benign |
|
|
R6799:Parp2
|
UTSW |
14 |
51,058,553 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7105:Parp2
|
UTSW |
14 |
51,047,521 (GRCm39) |
frame shift |
probably null |
|
|
R7250:Parp2
|
UTSW |
14 |
51,054,801 (GRCm39) |
missense |
probably benign |
|
|
R7606:Parp2
|
UTSW |
14 |
51,057,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8040:Parp2
|
UTSW |
14 |
51,047,630 (GRCm39) |
missense |
probably benign |
|
|
R8523:Parp2
|
UTSW |
14 |
51,057,247 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9089:Parp2
|
UTSW |
14 |
51,052,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9203:Parp2
|
UTSW |
14 |
51,056,850 (GRCm39) |
missense |
probably benign |
0.32 |
|
RF002:Parp2
|
UTSW |
14 |
51,054,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0019:Parp2
|
UTSW |
14 |
51,054,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation